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Fetal screening

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https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#1
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28511860/first-trimester-fetal-echocardiography-identification-of-cardiac-structures-for-screening-from-6-to-13%C3%A2-weeks-gestational-age
#2
Darren Hutchinson, Angela McBrien, Lisa Howley, Yuka Yamamoto, Priya Sekar, Tarek Motan, Venu Jain, Winnie Savard, Lisa K Hornberger
BACKGROUND: Early fetal echocardiography (FE), performed at 12 to 16 weeks' gestational age (GA), can be used to screen for fetal heart disease akin to that routinely performed in the second trimester. The efficacy of FE at earlier GAs has not been as well explored, particularly with recent advances in ultrasound technology. The aim of this study was to evaluate the efficacy of early FE in assessing fetal heart structure, and the added benefit of color Doppler (CD), from as early as 6 weeks through to 13(+6) weeks' GA...
May 13, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28510070/sonographic-detection-of-open-spina-bifida-in-the-first-trimester-review-of-the-literature
#3
César Meller, Horacio Aiello, Lucas Otaño
In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28505190/dynamic-interaction-between-fetal-adversity-and-a-genetic-score-reflecting-dopamine-function-on-developmental-outcomes-at-36-months
#4
Adrianne R Bischoff, Irina Pokhvisneva, Étienne Léger, Hélène Gaudreau, Meir Steiner, James L Kennedy, Kieran J O'Donnell, Josie Diorio, Michael J Meaney, Patrícia P Silveira
BACKGROUND: Fetal adversity, evidenced by poor fetal growth for instance, is associated with increased risk for several diseases later in life. Classical cut-offs to characterize small (SGA) and large for gestational age (LGA) newborns are used to define long term vulnerability. We aimed at exploring the possible dynamism of different birth weight cut-offs in defining vulnerability in developmental outcomes (through the Bayley Scales of Infant and Toddler Development), using the example of a gene vs...
2017: PloS One
https://www.readbyqxmd.com/read/28495235/prenatal-detection-of-megacystis-not-always-an-adverse-prognostic-factor-experience-in-25-consecutive-cases-in-a-tertiary-referral-center-with-complete-neonatal-outcome-and-follow-up
#5
Marcella Pellegrino, Daniela Visconti, Vincenzo Davide Catania, Luisa D'Oria, Carlo Manzoni, Maria Giovanna Grella, Alessandro Caruso, Lucia Masini, Giuseppe Noia
INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012...
April 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28494564/-clinical-observation-and-related-factors-analysis-of-neonatal-asphyxia-complicated-with-retinal-hemorrhage
#6
Q L Pu, Q Y Zhou, J Liu, P Li, H F Huang, H Q Jiang
Objective: To observe and analyze related factors of neonatal asphyxia complicated with retinal hemorrhage. Methods: It was a retrospective case series. Seven hundred and twenty-one cases with neonatal asphyxia after 72 hours of birth were enrolled in this study. Fundus examination was performed on these newborns using the third generation wide-angle digital retina imaging system (RetCamⅢ), and the bleeding level was divided into level I, level Ⅱ and level Ⅲ. The conditions of the newborn and the mother during pregnancy were correlatively analyzed...
May 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28493464/first-trimester-ultrasound-screening-for-trisomy-21-based-on-maternal-age-fetal-nuchal-translucency-and-different-methods-of-ductus-venosus-assessment
#7
Philipp Wagner, Jiri Sonek, Jessika Klein, Markus Hoopmann, Harald Abele, Karl Oliver Kagan
OBJECTIVE: To examine whether combining the dichotomous assessment of the a-wave and the Ductus venosus (DV) PIV measurement improves first-trimester-screening performance. METHODS: Retrospective study performed at the University Hospital of Tuebingen based on singleton pregnancies that underwent first-trimester-screening including DV flow assessment. In each case, the risk of trisomy 21 was calculated based on maternal age, fetal NT, and DV flow either as dichotomous classification of the a-wave, as measurement of the DV PIV, or both...
May 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28487280/the-identification-and-functional-annotation-of-rna-structures-conserved-in-vertebrates
#8
Stefan E Seemann, Aashiq H Mirza, Claus Hansen, Claus H Bang-Berthelsen, Christian Garde, Mikkel Christensen-Dalsgaard, Elfar Torarinsson, Zizhen Yao, Christopher T Workman, Flemming Pociot, Henrik Nielsen, Niels Tommerup, Walter L Ruzzo, Jan Gorodkin
Structured elements of RNA molecules are essential in, e.g., RNA stabilization, localization and protein interaction, and their conservation across species suggests a common functional role. We computationally screened vertebrate genomes for Conserved RNA Structures (CRSs), leveraging structure-based, rather than sequence-based, alignments. After careful correction for sequence identity and GC content, we predict ~516k human genomic regions containing CRSs. We find that a substantial fraction of human-mouse CRS regions (i) co-localize consistently with binding sites of the same RNA binding proteins (RBPs) or (ii) are transcribed in corresponding tissues...
May 9, 2017: Genome Research
https://www.readbyqxmd.com/read/28486369/zika-risk-and-pregnancy-in-clinical-practice-ongoing-experience-as-the-outbreak-evolves
#9
Rashmi Rao, Stephanie L Gaw, Christina S Han, Lawrence D Platt, Neil S Silverman
OBJECTIVE: To describe a single U.S. perinatal center's ongoing experience with evaluating pregnant patients with potential exposure to Zika virus infection. METHODS: This is an institutional review board-approved longitudinal observational study from January to August 2016 from a single perinatal referral center. Patients who had traveled to or had sexual contact with a person who traveled to a region with documented local Zika virus transmission were included in the study...
May 5, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28486361/universal-cervical-length-screening-and-antenatal-corticosteroid-timing
#10
Nicole Sahasrabudhe, Catherine Igel, Ghislaine C Echevarria, Peʼer Dar, Diana Wolfe, Peter S Bernstein, Robert Angert, Ashlesha Dayal, Patience Gallagher, Mara Rosner
OBJECTIVE: To evaluate the relationship between universal transvaginal screening for short cervical length in the second trimester and the timing of antenatal corticosteroids. METHODS: We performed a retrospective cohort study of patients with nonanomalous singleton gestations and spontaneous preterm birth between 24 and 34 weeks of gestation after the initiation of a universal transvaginal cervical length screening program between October 2012 and August 2015. Our primary outcome was antenatal corticosteroid administration to a delivery interval of fewer than 7 days...
May 5, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28485265/massively-parallel-sequencing-mps-of-cell-free-fetal-dna-cffdna-for-trisomies-21-18-and-13-in-twin-pregnancies
#11
Erqiu Du, Chun Feng, Yuming Cao, Yanru Yao, Jing Lu, Yuanzhen Zhang
Massively parallel sequencing (MPS) technology has become increasingly available and has been widely used to screen for trisomies 21, 18, and 13 in singleton pregnancies. This study assessed the performance of MPS testing of cell-free fetal DNA (cffDNA) from maternal plasma for trisomies 21, 18, and 13 in twin pregnancies. Ninety-two women with twin pregnancies were recruited. The results were identified through karyotypes of amniocentesis or clinical examination and follow-up of the neonates. Fluorescent in-situ hybridization was used to examine the placentas postnatally in cases of false-positive results...
May 9, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28482343/fetal-tricuspid-regurgitation-in-the-first-trimester-as-a-screening-marker-for-congenital-heart-defects-systematic-review-and-meta-analysis
#12
Carolina Scala, Maddalena Morlando, Alessandra Familiari, Umberto Leone Roberti Maggiore, Simone Ferrero, Francesco D'Antonio, Asma Khalil
BACKGROUND: Assessment of tricuspid flow has been reported to improve the performance of screening for aneuploidies and congenital heart defects (CHD). However, the performance of tricuspid regurgitation (TR) as a screening marker for CHD in euploid fetuses is yet to be established. The main aim of this meta-analysis was to establish the predictive accuracy of TR for CHD. METHODS: MEDLINE, Embase, and the Cochrane Library were searched electronically utilizing combinations of the relevant medical subject heading for "fetus," "tricuspid regurgitation," and "first trimester...
May 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28460648/endothelial-dysfunction-in-individuals-born-after-fetal-growth-restriction-cardiovascular-and-renal-consequences-and-preventive-approaches
#13
C Yzydorczyk, J B Armengaud, A C Peyter, H Chehade, F Cachat, C Juvet, B Siddeek, S Simoncini, F Sabatier, F Dignat-George, D Mitanchez, U Simeoni
Individuals born after intrauterine growth restriction (IUGR) have an increased risk of perinatal morbidity/mortality, and those who survive face long-term consequences such as cardiovascular-related diseases, including systemic hypertension, atherosclerosis, coronary heart disease and chronic kidney disease. In addition to the demonstrated long-term effects of decreased nephron endowment and hyperactivity of the hypothalamic-pituitary-adrenal axis, individuals born after IUGR also exhibit early alterations in vascular structure and function, which have been identified as key factors of the development of cardiovascular-related diseases...
May 2, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28458583/current-perspectives-on-fetal-and-neonatal-alloimmune-thrombocytopenia-increasing-clinical-concerns-and-new-treatment-opportunities
#14
REVIEW
Heidi Tiller, Anne Husebekk, Maria Therese Ahlen, Tor B Stuge, Bjørn Skogen
Differences in platelet type between the fetus and the mother can lead to maternal immunization and destruction of the fetal platelets, a condition named fetal and neonatal alloimmune thrombocytopenia (FNAIT). FNAIT is reported to occur in ~1 per 1,000 live born neonates. The major risk is intracranial hemorrhage in the fetus or newborn, which is associated with severe neurological complications or death. Since no countries have yet implemented a screening program to detect pregnancies at risk, the diagnosis is typically established after the birth of a child with symptoms...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28457816/interventions-to-prevent-stillbirth
#15
REVIEW
Jessica M Page, Robert M Silver
Stillbirth is one of the most distressing complications of pregnancy and still occurs far too frequently. The rate of stillbirth has been decreasing worldwide but room for improvement remains even in high-income countries. Risk factors for stillbirth have been identified in an effort to detect those women at increased risk. However, risk factors are non-specific and do not identify most stillbirths. Strategies employed to screen the general population such as assessment of fetal activity, fetal growth screening and biomarkers have also been used to identify increased risk for stillbirth...
April 27, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28457106/detection-rate-and-sonographic-signs-of-trisomy-21-fetuses-at-14-17-weeks-of-gestation
#16
Eliezer Bronshtein, Ido Solt, Moshe Bronshtein, Ayala Gover, Igal Wolman, Zeev Blumenfeld
BACKGROUND: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation. OBJECTIVES: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. METHODS: We conducted a historical prospective study. Since 1986, early TVS of 72,000 fetuses at 14-17 weeks gestation have been prospectively recorded together with prenatal screening data at a private ultrasound center (AL-KOL, Haifa)...
January 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28452133/blinded-ultrasonic-fetal-biometry-at-36-weeks-and-the-risk-of-emergency-caesarean-delivery-a-prospective-cohort-study-of-3-047-low-risk-nulliparous-women
#17
Ulla Sovio, Gordon C S Smith
OBJECTIVES: We studied the risk of emergency caesarean delivery (CD) using blinded ultrasonographic estimated fetal weight (EFW) at 36 weeks of gestational age (wkGA): (1) to compare the association for customised and non-customised EFW, (2) to determine whether adding ultrasonic EFW improved prediction based on maternal characteristics alone, and (3) to determine whether women at high predicted risk of emergency CD had higher risks of maternal and perinatal morbidity than other women...
April 28, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28451695/low-maternal-serum-pregnancy-associated-plasma-protein-a-as-a-risk-factor-of-preeclampsia
#18
Suchaya Luewan, Monrudee Teja-Intr, Supatra Sirichotiyakul, Theera Tongsong
INTRODUCTION: Low levels of pregnancy-associated plasma protein-A (PAPP-A) might be associated with abnormal placentation, leading to the development of preeclampsia in late gestation. We aimed to determine the association between low serum PAPP-A levels and rates of preeclampsia in Thai women with otherwise low-risk pregnancies. METHODS: A cohort study was conducted on consecutive singleton pregnancies, undergoing first trimester screening for fetal Down syndrome, at a tertiary centre hospital...
April 28, 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28449648/development-and-evaluation-of-training-resources-to-prepare-health-professionals-for-counselling-pregnant-women-about-non-invasive-prenatal-testing-for-down-syndrome-a-mixed-methods-study
#19
Kerry Oxenford, Rebecca Daley, Celine Lewis, Melissa Hill, Lyn S Chitty
BACKGROUND: The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice. METHODS: Training on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service...
April 27, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28437855/mild-fetal-cerebral-ventriculomegaly-prevalence-characteristics-and-utility-of-ancillary-testing-in-cases-presenting-to-a-tertiary-referral-center
#20
Alison J Mehlhorn, Cara E Morin, Jade J Wong-You-Cheong, Stephen A Contag
OBJECTIVE: Ventriculomegaly is the most common fetal brain anomaly identified during prenatal anatomy ultrasound. The aim of our study was to characterize cases of mild ventriculomegaly and investigate the utility of ancillary tests. METHOD: We reviewed 121 cases of mild ventriculomegaly, defined as lateral ventricle diameter of 10-15 mm. Characteristics of the ventricular dilation as well as each pregnancy were investigated. Ancillary tests performed included follow-up MRI, chromosomal abnormality testing, and maternal serologic infection screening...
April 24, 2017: Prenatal Diagnosis
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